Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 104, Issue 5, Pages 985-989Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2019.03.018
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Funding
- Wellcome [WT206194]
- Wellcome Trust Senior Investigator award [WT098395/Z/12/Z]
- NIHR
- Wellcome Trust
- Royal Society [105636/Z/14/Z]
- Wellcome Trust Intermediate Clinical Fellowship [105914/Z/14/Z]
- Research Foundation-Flanders (FWO)
- VUB Research Council
- Stichting Diabetes Onderzoek Nederland
- [50565]
- Wellcome Trust [105914/Z/14/Z] Funding Source: Wellcome Trust
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We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar phenotype in mice. CNOT1 is a transcriptional repressor that has been suggested as being critical for maintaining embryonic stem cells in a pluripotent state. These findings suggest that CNOT1 plays a critical role in pancreatic and neurological development and describe a novel genetic syndrome of pancreatic agenesis and holoprosencephaly.
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